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. 2025 May 30:43:101231.
doi: 10.1016/j.ymgmr.2025.101231. eCollection 2025 Jun.

Exploring the burdens of women living with Fabry disease in Japan: A patient survey of 62 respondents

Masahisa Kobayashi  1 , Ikuko Kaku  2 , Nanae Goto  3 , Mio Tsuchiya  3 , Norio Sakai  4
Affiliations

Exploring the burdens of women living with Fabry disease in Japan: A patient survey of 62 respondents

Masahisa Kobayashi et al. Mol Genet Metab Rep. .

Abstract

The challenges encountered by women living with Fabry disease in Japan are not well understood. This study aimed to elucidate the experiences of women with Fabry disease and their support networks from both female and male perspectives. A 22-question survey was conducted among patients with Fabry disease and their caregivers (≥18 years) in Japan between August and October 2023. Sixty-two recipients completed the questionnaire (11.5 % response rate); 47 (75.8 %) were female and the mean age was 52.4 years. Overall, 51 respondents (82.3 %) identified as patients, 2 (3.2 %) as caregivers, 6 (9.7 %) as both a patient and caregiver, and 3 (4.8 %) as "other". In total, 43 respondents (69.4 %) were women with Fabry disease. Among life events surveyed, Fabry disease had the greatest impact for women during family planning. The most commonly reported concerns for women were inheritance of Fabry disease and impact on children, the main reasons for which were prejudice, stigma, and sense of guilt associated with inheritance. In all, 28.1 % of respondents felt family and colleagues understood women's challenges with Fabry disease, while 37.9 % believed their primary care physicians and 48.3 % felt their specialist physicians understood these challenges; 26.3 % thought women received tailored care, and 75.9 % felt the condition affects mental health. Women with Fabry disease in Japan face substantial emotional burdens and lack support from their community and physicians. Healthcare professionals can play a pivotal role by offering genetic counseling and developing support programs to alleviate mental burdens and provide education about the disease and family planning implications.

Keywords: Fabry disease; Japan; Mental burden; Patient survey; Quality of life; Women.

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Conflict of interest statement

The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Masahisa Kobayashi reports consulting fees from Amicus Therapeutics, K.K and payment or honoraria for lectures, presentations, speaker bureaus, manuscript writing or education events from Sanofi and Takeda Pharmaceuticals. Ikuko Kaku has no conflicts of interest to report. Nanae Goto reports employment with Amicus Therapeutics K.K. Mio Tsuchiya reports previous employment with, and previous stockholder in, Amicus Therapeutics K.K. Norio Sakai reports honoraria for lectures from Amicus Therapeutics K.K.

Figures

Fig. 1
Fig. 1
Diagnosis of Fabry disease.
Fig. 2
Fig. 2
Current symptoms and conditions related to Fabry disease.
Fig. 3
Fig. 3
The greatest concerns for women living with Fabry disease. A) Frequency of concerns chosen by male and female respondents and B) Co-occurrence network analysis of the reasons behind the concerns chosen by male and female respondents.
Fig. 3
Fig. 3
The greatest concerns for women living with Fabry disease. A) Frequency of concerns chosen by male and female respondents and B) Co-occurrence network analysis of the reasons behind the concerns chosen by male and female respondents.
Fig. 4
Fig. 4
The medical and social environment for women living with Fabry disease in Japan.
See this image and copyright information in PMC

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